Variant report

Variant	rs1017348
Chromosome Location	chr3:150898634-150898635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150890931..150894711-chr3:150896702..150899064,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10513387	0.89[CEU][hapmap]
rs1221002	1.00[CEU][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs1221003	0.85[CEU][hapmap]
rs1231519	0.85[CEU][hapmap]
rs13322794	0.83[CEU][hapmap]
rs1549829	0.89[CEU][hapmap]
rs1554120	0.89[CEU][hapmap]
rs17290219	0.89[CEU][hapmap]
rs1920397	1.00[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2141630	0.85[CEU][hapmap]
rs2567325	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2700470	0.91[EUR][1000 genomes]
rs6792089	0.82[CEU][hapmap]
rs9818251	0.84[CEU][hapmap]
rs9836053	0.89[CEU][hapmap]
rs9854126	0.84[CEU][hapmap]
rs9871624	0.89[CEU][hapmap]
rs9876268	0.82[CEU][hapmap]
rs9881116	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1017348	TM4SF18	cis	cerebellum	SCAN
rs1017348	MME	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150872800-150910800	Weak transcription	Brain Germinal Matrix	brain
2	chr3:150873200-150910200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:150873800-150913800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:150874800-150900200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
6	chr3:150880400-150900200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:150880800-150900400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:150884200-150906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:150889000-150904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:150889200-150908200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:150889200-150914800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:150889400-150903600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:150889600-150904000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:150889600-150913800	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:150890600-150923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:150891000-150900200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:150892400-150904200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:150894000-150904200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:150895200-150900200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:150896200-150927800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:150896400-150900200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:150896400-150904400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:150896600-150899600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:150896600-150918200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:150897200-150916200	Weak transcription	Fetal Intestine Small	intestine
26	chr3:150897400-150900600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:150897600-150900200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:150897600-150913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:150897800-150900200	Weak transcription	HepG2	liver
30	chr3:150898600-150899000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:150898600-150900000	Weak transcription	Primary T cells from cord blood	blood
32	chr3:150898600-150900400	Weak transcription	Fetal Heart	heart
33	chr3:150898600-150917200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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